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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-238185147-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=238185147&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 238185147,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_030768.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ILKAP",
"gene_hgnc_id": 15566,
"hgvs_c": "c.532+34A>C",
"hgvs_p": null,
"transcript": "NM_030768.3",
"protein_id": "NP_110395.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": null,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000254654.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030768.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ILKAP",
"gene_hgnc_id": 15566,
"hgvs_c": "c.532+34A>C",
"hgvs_p": null,
"transcript": "ENST00000254654.8",
"protein_id": "ENSP00000254654.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": null,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030768.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254654.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ILKAP",
"gene_hgnc_id": 15566,
"hgvs_c": "c.179-1034A>C",
"hgvs_p": null,
"transcript": "ENST00000622223.4",
"protein_id": "ENSP00000477542.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 274,
"cds_start": null,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622223.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ILKAP",
"gene_hgnc_id": 15566,
"hgvs_c": "c.426-1034A>C",
"hgvs_p": null,
"transcript": "ENST00000612675.4",
"protein_id": "ENSP00000477533.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 162,
"cds_start": null,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612675.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ILKAP",
"gene_hgnc_id": 15566,
"hgvs_c": "c.580+34A>C",
"hgvs_p": null,
"transcript": "ENST00000857602.1",
"protein_id": "ENSP00000527661.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 408,
"cds_start": null,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857602.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ILKAP",
"gene_hgnc_id": 15566,
"hgvs_c": "c.574+34A>C",
"hgvs_p": null,
"transcript": "ENST00000857604.1",
"protein_id": "ENSP00000527663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": null,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857604.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ILKAP",
"gene_hgnc_id": 15566,
"hgvs_c": "c.571+34A>C",
"hgvs_p": null,
"transcript": "ENST00000857603.1",
"protein_id": "ENSP00000527662.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 405,
"cds_start": null,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857603.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ILKAP",
"gene_hgnc_id": 15566,
"hgvs_c": "c.562+34A>C",
"hgvs_p": null,
"transcript": "ENST00000939645.1",
"protein_id": "ENSP00000609704.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 402,
"cds_start": null,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939645.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ILKAP",
"gene_hgnc_id": 15566,
"hgvs_c": "c.544+34A>C",
"hgvs_p": null,
"transcript": "ENST00000951977.1",
"protein_id": "ENSP00000622036.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 396,
"cds_start": null,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951977.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ILKAP",
"gene_hgnc_id": 15566,
"hgvs_c": "c.541+34A>C",
"hgvs_p": null,
"transcript": "ENST00000951978.1",
"protein_id": "ENSP00000622037.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": null,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951978.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ILKAP",
"gene_hgnc_id": 15566,
"hgvs_c": "c.532+34A>C",
"hgvs_p": null,
"transcript": "ENST00000951976.1",
"protein_id": "ENSP00000622035.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": null,
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"cds_length": 1176,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951976.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ILKAP",
"gene_hgnc_id": 15566,
"hgvs_c": "c.526+34A>C",
"hgvs_p": null,
"transcript": "ENST00000951975.1",
"protein_id": "ENSP00000622034.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000951975.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ILKAP",
"gene_hgnc_id": 15566,
"hgvs_c": "c.496+34A>C",
"hgvs_p": null,
"transcript": "ENST00000857599.1",
"protein_id": "ENSP00000527658.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 5,
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"gene_symbol": "ILKAP",
"gene_hgnc_id": 15566,
"hgvs_c": "c.412+34A>C",
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"transcript": "ENST00000857600.1",
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"biotype": "protein_coding",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ILKAP",
"gene_hgnc_id": 15566,
"hgvs_c": "c.532+34A>C",
"hgvs_p": null,
"transcript": "ENST00000857605.1",
"protein_id": "ENSP00000527664.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857605.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ILKAP",
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"hgvs_c": "c.532+34A>C",
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"transcript": "ENST00000939643.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ILKAP",
"gene_hgnc_id": 15566,
"hgvs_c": "c.299-1034A>C",
"hgvs_p": null,
"transcript": "ENST00000857601.1",
"protein_id": "ENSP00000527660.1",
"transcript_support_level": null,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000857601.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ILKAP",
"gene_hgnc_id": 15566,
"hgvs_c": "c.56-1034A>C",
"hgvs_p": null,
"transcript": "ENST00000939644.1",
"protein_id": "ENSP00000609703.1",
"transcript_support_level": null,
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"cds_start": null,
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"feature": "ENST00000939644.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ILKAP",
"gene_hgnc_id": 15566,
"hgvs_c": "c.526+34A>C",
"hgvs_p": null,
"transcript": "ENST00000457149.1",
"protein_id": "ENSP00000395301.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ILKAP",
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"hgvs_c": "c.328+34A>C",
"hgvs_p": null,
"transcript": "XM_006712784.2",
"protein_id": "XP_006712847.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ILKAP",
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"hgvs_c": "c.172+34A>C",
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"transcript": "XM_017005057.2",
"protein_id": "XP_016860546.1",
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017005057.2"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ILKAP",
"gene_hgnc_id": 15566,
"hgvs_c": "c.136+34A>C",
"hgvs_p": null,
"transcript": "XM_017005058.2",
"protein_id": "XP_016860547.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 260,
"cds_start": null,
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"cds_length": 783,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005058.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
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{
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{
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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"effects": [
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}